Linked Data
dbSNP Id:
rs749628219
ExAC:
1:152277182 CAT / C
gnomAD v2:
1-152277182-CAT-C
gnomAD v4:
1-152304706-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304707_152304708del , CM000663.2:g.152304707_152304708del | GRCh38 |
| NC_000001.10:g.152277183_152277184del , CM000663.1:g.152277183_152277184del | GRCh37 |
| NC_000001.9:g.150543807_150543808del | NCBI36 |
| NG_016190.1:g.25496_25497del , LRG_1028:g.25496_25497del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10178_10179del MANE Select | ENSP00000357789.1:p.His3393ArgfsTer4 | |
| ENST00000368799.1:c.10178_10179del | ENSP00000357789.1:p.His3393ArgfsTer4 | |
| NM_002016.1:c.10178_10179del , LRG_1028t1:c.10178_10179del | NP_002007.1:p.His3393ArgfsTer4 | |
| XM_011509329.1:c.9109-875_9109-874del | XP_011507631.1:n.9109-875_9109-874del | |
| NM_002016.2:c.10178_10179del MANE Select | NP_002007.1:p.His3393ArgfsTer4 |